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一例与局灶性肾小球硬化相关的颅下颌皮肤骨发育不全病例。

A case of craniomandibular dermatodysostosis associated with focal glomerulosclerosis.

作者信息

Pedagogos E, Flanagan G, Francis D M, Becker G J, Danks D M, Walker R G

机构信息

Department of Nephrology, Royal Melbourne Hospital, Victoria, Australia.

出版信息

Pediatr Nephrol. 1995 Jun;9(3):354-6. doi: 10.1007/BF02254211.

DOI:10.1007/BF02254211
PMID:7632532
Abstract

This paper reports an isolated case of the exceedingly rare cutaneo-skeletal condition craniomandibular dermatodysostosis, in which focal glomerular sclerosis and end-stage renal failure developed and renal transplantation was required.

摘要

本文报道了一例极为罕见的皮肤骨骼疾病——颅下颌皮肤骨发育不全的孤立病例，该病例出现了局灶性肾小球硬化和终末期肾衰竭，需要进行肾移植。

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本文引用的文献

1
[On a case of cleidocranial dysostosis].[关于一例锁骨颅骨发育不全症]
Riv Clin Pediatr. 1960 Apr;65:312-26.
2
Essential osteolysis with nephropathy. A review of the literature and case report of an unusual syndrome.伴有肾病的原发性骨质溶解症。文献综述及一种罕见综合征的病例报告
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New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.
Birth Defects Orig Artic Ser. 1971 Jun;7(7):291-7.
4
Renal disease in nail-patella syndrome: clinical and morphologic studies.指甲-髌骨综合征中的肾脏疾病：临床与形态学研究
Kidney Int. 1972 Oct;2(4):231-8. doi: 10.1038/ki.1972.99.
5
Osteo-onychodystrophy with nephropathy and renal osteodystrophy. A case report.伴有肾病和肾性骨营养不良的骨-甲营养不良。病例报告。
J Bone Joint Surg Am. 1972 Sep;54(6):1301-5.
6
Craniomandibular dermatodysostosis.颅下颌皮肤骨发育不全症。
Birth Defects Orig Artic Ser. 1974;10(12):99-105.
7
Chondroitin-6-sulfate mucopoly-saccharidosis in conjunction with lymphopenia, defective cellular immunity and the nephrotic syndrome.
Birth Defects Orig Artic Ser. 1974;10(12):258-66.
8
Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerleut Hutterite family from Montana.
Am J Med Genet. 1985 Nov;22(3):521-9. doi: 10.1002/ajmg.1320220310.
9
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy?另一个患有下颌骨发育不全综合征的意大利家庭：为何在意大利似乎更为常见？
Am J Med Genet. 1986 Jun;24(2):357-64. doi: 10.1002/ajmg.1320240215.
10
Association of spondylo-epiphyseal dysplasia with nephrotic syndrome.
Pediatr Nephrol. 1990 Mar;4(2):117-21. doi: 10.1007/BF00858821.